Down Syndrome Diagnosis

A newborn baby with Down Syndrome often shows unique physical signs. The doctor usually recognizes these features immediately after the baby is born. These may include a flattened face, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep crease on the palm of the hand.

However, a child with Down syndrome may not have all of these features.

Once the baby is born, a blood test can confirm whether the baby has Down Syndrome. 

This test is called a chromosomal karyotype. To get the results from this test, cells from the baby’s blood needs to “grow” for about two weeks. The cells are then examined under a microscope to see if there is extra material from chromosome 21.

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National Down Syndrome Society